Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.

Journal: Molecular genetics and metabolism

Publication date: 

Journal: Molecular genetics and metabolism

Publication Year: 

Authors & Co-authors:  Tokatly Latzer Bertoldi Blau DiBacco Elsea García-Cazorla Gibson Gropman Hanson Hoffman

Aberrant splicing caused by a novel KMT2A variant in Wiedemann-Steiner syndrome.

Journal: Molecular genetics & genomic medicine

Publication date: 2024

Journal: Molecular genetics & genomic medicine

Publication Year: 2024

Authors & Co-authors:  Niu Teng Zhang

A molecular analysis of the gene in Caucasian South Africans with Parkinson's disease.

Journal: Molecular genetics & genomic medicine

Publication date: 

Journal: Molecular genetics & genomic medicine

Publication Year: 

Authors & Co-authors:  Barkhuizen Melinda M Anderson David G DG van der Westhuizen Francois H FH Grobler Anne F AF

Differences in Niemann-Pick disease Type C symptomatology observed in patients of different ages.

Journal: Molecular genetics and metabolism

Publication date: 2017

Journal: Molecular genetics and metabolism

Publication Year: 2017

Authors & Co-authors:  Mengel Eugen E Pineda Mercedes M Hendriksz Christian J CJ Walterfang Mark M Torres Juan V JV Kolb Stefan A SA

Association study in three different populations between the GPR88 gene and major psychoses.

Journal: Molecular genetics & genomic medicine

Publication date: 2014

Journal: Molecular genetics & genomic medicine

Publication Year: 2014

Authors & Co-authors:  Del Zompo Maria M Deleuze Jean-François JF Chillotti Caterina C Cousin Emmanuelle E Niehaus Dana D Ebstein Richard P RP Ardau Raffaella R Macé Sandrine S Warnich Louise L Mujahed Mustafa M